Shwachman Diamond Syndrome is a p53-independent ribosomopathy
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چکیده
منابع مشابه
A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome
Ribosomopathies are rare diseases caused by mutations in proteins constituting the ribosome (ribosomal proteins) or factors involved in ribosome production (ribosome biogenesis factors). With the exception of 5qsyndrome, which is an acquired disease, most established ribosomopathies are congenital diseases. The most frequent congenital diseases are Diamond-Blackfan anemia (DBA), Shwachman-Diamo...
متن کاملA novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome.
Artistic representation of the interleukin-7 receptor complex in the plasma membrane of a cell. Editorials 1237 A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome 1240 JAK kinase targeting in hematologic malignancies: a sinuous pathway from identification of genetic alterations towards clinical indications Lorraine Springuel, ...
متن کاملA case of Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400), characterized by exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow (BM) dysfunction, with a risk, as high as 30%, to develop myelodysplastic syndrome and/or acute myeloid leukaemia (MDS/AML). The SBDS gene (OMIM 607744) is localized on chromosome 7 at the band q11 and mutations of this gen...
متن کاملHematologically important mutations: Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the ...
متن کاملShwachman Diamond Syndrome: an emergency challenge
Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic ana...
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ژورنال
عنوان ژورنال: Developmental Biology
سال: 2011
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2011.05.368